BB3714 - Endocrine Disorders Assignment Help

Assignment Task

Description of assessment task

This assessment will develop your ability to do problem solving and data analysis and present your work in the form of a written report (maximum length words excluding references, tables and figure legends). The report has the following aims and objectives:

Aim

To understand how Thyroid Stimulating Hormone (TSH) exerts its effects in the greater context of the hypothalamic/pituitary/thyroid axis.

Objectives:

From the above information and your knowledge of intracellular signalling mechanisms, answer the following questions:

• What do you think the identity of protein X is?

• Why does your patient have precocious puberty, and how does the mutation lead to this effect?

• Why does your patient have resistance to thyroid hormone?

• Why is protein X present in your patient’s testes but not in the thyroid or parathyroid?

Your patient, a young child, presents with a set of unusual symptoms:

• He has premature development of pubic hairs and male genitalia (precocious puberty).

• He has low calcium and high phosphate blood levels.

• Incubation of thyroid cells (removed by biopsy) with thyroid stimulating hormone (TSH) at 37^oC does not cause an increase in the release of thyroid hormones.

Upon investigation you find that he has an altered protein (called protein X), with a Ser366Ala mutation. The protein is present in his testes, but not in his thyroid or parathyroid cells, although in a normal person, the protein would be present in all the tissues.

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